Childhood course of renal insufficiency in a family with a uromodulin gene mutation

Pediatric Nephrology

Volumn 25, Issue 7, 2010, Pages 1355-1360

  Schäffer, Péter ^a   Gombos, Éva ^a   Meichelbeck, Krisztina ^a   Kiss, András ^a   Hart, P Suzanne ^b   Bleyer, Anthony J ^c  

^a HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal dominant; Childhood; Children; Chronic renal failure; Familial juvenile hyperuricemic nephropathy; Hyperuricemia; Interstitial kidney; Medullary cystic kidney disease; Uromodulin; Uromodulin associated kidney disease

Indexed keywords

ALLOPURINOL; CREATININE; HEMOGLOBIN; TAMM HORSFALL GLYCOPROTEIN; URIC ACID;

ANEMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD PRESSURE; CASE REPORT; CHILD; CREATININE CLEARANCE; ECHOGRAPHY; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GLOMERULUS FILTRATION RATE; HUMAN; IRON DEFICIENCY; KIDNEY FAILURE; KIDNEY FUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; PROTEIN URINE LEVEL; URIC ACID BLOOD LEVEL; URINALYSIS;

ADULT; ALLOPURINOL; ANEMIA; ANTIMETABOLITES; CHILD; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; DIET, PROTEIN-RESTRICTED; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLOMERULAR FILTRATION RATE; HUMANS; HYPERURICEMIA; INFANT; KIDNEY FAILURE, CHRONIC; KIDNEY FUNCTION TESTS; MALE; MUCOPROTEINS; MUTATION;

EID: 77954536220     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1436-y     Document Type: Article

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